Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness (POPS3)

Centre Hospitalier Universitaire de Nice

Status: Completed

Conditions: Pompe Disease

Treatments: Other: Blood sample

Study type: Interventional

Funder types: Other

Identifiers

NCT02746718

14-PP-13

Details and patient eligibility

About

A breach of respiratory function may be one of the elements more or less early or predominant clinical picture of neuromuscular diseases. It is considered that the obstructive syndromes represent 64% and restrictive or mixed syndromes 36% of chronic respiratory insufficiency, approximately 7% due to a neuromuscular disease. The frequency and type of impairment are dependent on the underlying pathology.

The neuromuscular restrictive respiratory failure (IRR) remains partially unknown pulmonologists, especially because the signs of muscle weakness are sometimes difficult to detect. However, respiratory diseases are a major concern in neuromuscular diseases because they can have an impact both on sleep (not sleep, ...) on the daily activities (breathlessness on exertion, dyspnea) and thereby alter the quality of life of patients. Moreover, they represent a significant morbidity and mortality factor. Chest tightness may in some cases reveal the disease and thus constitute the chief complaint of a patient with a neuromuscular disease. In late-onset Pompe disease, lung disease is the predominant clinical symptoms in about 30% of patients.

An algorithm was developed to guide practitioners and help them in their diagnostic approach to the cause of the IRR (diagnostic algorithm ATS / ERS 2005). However, this algorithm does not allow precise identification of the neuromuscular causes.

At the patient level, this can have an impact by extending the time before placing a diagnosis. In Pompe disease, the average time to diagnosis reached 7.9 years. However, there are for this disease a simple and rapid diagnostic test. Therefore, a greater awareness of practitioners with regard to the particular Pompe disease and neuromuscular diseases in general may be beneficial to patients.

This study aims to:

i) awareness pulmonologists to the possibility of neuromuscular an IRR.

ii) characterize the frequency of neuromuscular origin of IRR in a broad population of patients with concomitant signs muscle weakness.

iii) reduce the time to diagnosis by directing patients to neuromuscular reference center early.

Enrollment: 50 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Presence of a CV <80% of predicted and / or <LIN
• Presence spirometry a report Tiffeneau (FEV / CV) equal to or higher than normal
• Signature of informed consent
• Men and women age ≥ 18 years
• Production of a medical examination
• Affiliated to social security

Exclusion criteria

• restrictive breath traumatic
• restrictive respiratory failure associated with parenchymal disorder, whether localized or diffuse
• known neuromuscular disease associated with a restrictive lung disease
• Patient under guardianship, curatorship, protected by law
• Inability to cooperate
• Morbid obesity with a BMI ≥40

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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50 participants in 1 patient group

Restrictive Respiratory Failure

Other group

Description:

A CPK dosage, muscular questionnaires and a Pompe Disease test are practiced on patient with Restrictive Respiratory Failure without etiology

Treatment:

Other: Blood sample